OBO ID: DOID:0050647
Term Name: Arts syndrome Search Ontology:
Synonyms:
  • ARTS
  • fatal X-linked ataxia with deafness and loss of vision
  • Lethal ataxia with deafness and optic atrophy
  • MRXS18
  • MRXSARTS
  • syndromic X-linked mental retardation 18
  • syndromic X-linked mental retardation Arts type
Definition: An X-linked disease that is characterized by profound congenital sensorineural hearing impairment, early-onset hypotonia, delayed motor development, mild to moderate intellectual disability, ataxia, and increased risk of infection and has_material_basis_in mutations of the PRPS1 gene. (5)
References:
Ontology: Human Disease   (DOID:0050647)
OTHER Arts syndrome PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
PRPS1 Arts syndrome 301835
PHENOTYPE No data available

CITATIONS (1)